Carregant...

Ensemble variant interpretation methods to predict enzyme activity and assign pathogenicity in the CAGI4 NAGLU (Human N-acetyl-glucosaminidase) and UBE2I (Human SUMO-ligase) challenges

CAGI (Critical Assessment of Genome Interpretation) conducts community experiments to determine the state of the art in relating genotype to phenotype. Here we report results obtained using newly-developed ensemble methods to address two CAGI4 challenges: enzyme activity for population missense vari...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Hum Mutat
Autors principals: Yin, Yizhou, Kundu, Kunal, Pal, Lipika R., Moult, John
Format: Artigo
Idioma:Inglês
Publicat: 2017
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5777327/
https://ncbi.nlm.nih.gov/pubmed/28544272
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23267
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!